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    RNF180 ring finger protein 180 [ Homo sapiens (human) ]

    Gene ID: 285671, updated on 2-May-2024

    Summary

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    Official Symbol
    RNF180provided by HGNC
    Official Full Name
    ring finger protein 180provided by HGNC
    Primary source
    HGNC:HGNC:27752
    See related
    Ensembl:ENSG00000164197 MIM:616015; AllianceGenome:HGNC:27752
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RINES
    Summary
    Predicted to enable ubiquitin conjugating enzyme binding activity and ubiquitin protein ligase activity. Predicted to be involved in norepinephrine metabolic process; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and serotonin metabolic process. Predicted to act upstream of or within several processes, including adult behavior; positive regulation of protein ubiquitination; and protein polyubiquitination. Predicted to be located in nuclear envelope. Predicted to be integral component of membrane. Predicted to be intrinsic component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in thyroid (RPKM 3.9), brain (RPKM 2.6) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q12.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (64165351..64372869)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (64985393..65192972)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (63461670..63668696)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378999 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:63256149-63256370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:63257009-63257986 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:63315837-63316027 Neighboring gene 5-hydroxytryptamine receptor 1A Neighboring gene Sharpr-MPRA regulatory region 1263 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:63702820-63703320 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:63703321-63703821 Neighboring gene regulator of G protein signaling 7 binding protein Neighboring gene RNA, 7SL, cytoplasmic 169, pseudogene Neighboring gene RNA, U6 small nuclear 294, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mediation of the malignant biological characteristics of gastric cancer cells by the methylated CpG islands in RNF180 DNA promoter. Deng J, et al. Oncotarget, 2016 Jul 12. PMID 27223257, Free PMC Article
    2. Promoter methylation of RNF180 is associated with H.pylori infection and serves as a marker for gastric cancer and atrophic gastritis. Han F, et al. Oncotarget, 2016 Apr 26. PMID 27050149, Free PMC Article
    3. Clinical and experimental role of ring finger protein 180 on lymph node metastasis and survival in gastric cancer. Deng J, et al. Br J Surg, 2016 Mar. PMID 26805552
    4. Evaluating the clinical feasibility: The direct bisulfite genomic sequencing for examination of methylated status of E3 ubiquitin ligase RNF180 DNA promoter to predict the survival of gastric cancer. Xie XM, et al. Cancer Biomark, 2015. PMID 25769451
    5. Methylation of CpG sites in RNF180 DNA promoter prediction poor survival of gastric cancer. Deng J, et al. Oncotarget, 2014 May 30. PMID 24833402, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. E3 ubiquitin ligase RNF180 prevents excessive PCDH10 methylation to suppress the proliferation and metastasis of gastric cancer cells by promoting ubiquitination of DNMT1.
      Title: E3 ubiquitin ligase RNF180 prevents excessive PCDH10 methylation to suppress the proliferation and metastasis of gastric cancer cells by promoting ubiquitination of DNMT1.
    2. DNMT3A-mediated silence in ADAMTS9 expression is restored by RNF180 to inhibit viability and motility in gastric cancer cells.
      Title: DNMT3A-mediated silence in ADAMTS9 expression is restored by RNF180 to inhibit viability and motility in gastric cancer cells.
    3. RNF180 mediates STAT3 activity by regulating the expression of RhoC via the proteasomal pathway in gastric cancer cells.
      Title: RNF180 mediates STAT3 activity by regulating the expression of RhoC via the proteasomal pathway in gastric cancer cells.
    4. relationships between RNF180 promoter methylation and gastric cancer or atrophic gastritis, and the effects of Helicobactor pylori (H.pylori) infection on RNF180 promoter methylation
      Title: Promoter methylation of RNF180 is associated with H.pylori infection and serves as a marker for gastric cancer and atrophic gastritis.
    5. The methylated status of the key CpG islands of RNF180 DNA promoter may be used to predict the variations of the malignant biological characteristics of gastric cancer cells.
      Title: Mediation of the malignant biological characteristics of gastric cancer cells by the methylated CpG islands in RNF180 DNA promoter.
    6. RNF180 is capable of inhibiting lymph node metastasis of gastric cancer by suppressing the intracellular activation of malignant molecular signals.
      Title: Clinical and experimental role of ring finger protein 180 on lymph node metastasis and survival in gastric cancer.
    7. hypermethylated CpG site count of E3 ubiquitin ligase Ring finger protein 180 promoter for evaluating the prognosis of gastric cancer was reasonable by using the direct bisulfite sequencing.
      Title: Evaluating the clinical feasibility: The direct bisulfite genomic sequencing for examination of methylated status of E3 ubiquitin ligase RNF180 DNA promoter to predict the survival of gastric cancer.
    8. We found that only few methylated CpG sites of RNF180 promoter was appropriate to predict the survival of gastric cancer
      Title: Methylation of CpG sites in RNF180 DNA promoter prediction poor survival of gastric cancer.
    9. Data indicate that the ring finger protein 180 (RNF180) and HTR1A showed association to T1D in the Swedish and Danish families.
      Title: HTR1A a novel type 1 diabetes susceptibility gene on chromosome 5p13-q13.
    10. RNF180 is a novel potential tumor suppressor in gastric carcinogenesis.
      Title: Characterization of the gene structure, functional significance, and clinical application of RNF180, a novel gene in gastric cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC120326, MGC120328

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin conjugating enzyme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in adult behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in norepinephrine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein polyubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in serotonin metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase RNF180
    Names
    RING-type E3 ubiquitin transferase RNF180
    NP_001107033.1
    NP_001310220.1
    NP_001310221.1
    NP_848627.1
    XP_016864872.1
    XP_016864875.1
    XP_016864876.1
    XP_016864877.1
    XP_016864878.1
    XP_047273072.1
    XP_047273074.1
    XP_047273075.1
    XP_047273076.1
    XP_047273077.1
    XP_047273078.1
    XP_054208421.1
    XP_054208422.1
    XP_054208423.1
    XP_054208424.1
    XP_054208425.1
    XP_054208426.1
    XP_054208427.1
    XP_054208428.1
    XP_054208429.1
    XP_054208430.1
    XP_054208431.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001113561.2 → NP_001107033.1  E3 ubiquitin-protein ligase RNF180 isoform 1

      See identical proteins and their annotated locations for NP_001107033.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL832580, DA183707, DA809479
      Consensus CDS
      CCDS47219.1
      UniProtKB/Swiss-Prot
      Q0JSU3, Q495A8, Q86T96, Q8NBD1
      Related
      ENSP00000373752.4, ENST00000389100.9
      Conserved Domains (1) summary
      cd16554
      Location:431 → 474
      RING-HC_RNF180; RING finger, HC subclass, found in RING finger protein 180 (RNF180) and similar proteins

    2. NM_001323291.1 → NP_001310220.1  E3 ubiquitin-protein ligase RNF180 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092360, AK090756, BC101279, DA183707
      UniProtKB/TrEMBL
      D6RE88

    3. NM_001323292.2 → NP_001310221.1  E3 ubiquitin-protein ligase RNF180 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC016623, AL832580, BC101397, DA183707, DA809479
      UniProtKB/Swiss-Prot
      Q86T96

    4. NM_178532.4 → NP_848627.1  E3 ubiquitin-protein ligase RNF180 isoform 2

      See identical proteins and their annotated locations for NP_848627.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' coding exons and differs in the 3' UTR, compared to variant 1. The resulting isoform (2) has a shorter, distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC092360, AK090756, BC101277, DA183707
      Consensus CDS
      CCDS34169.1
      UniProtKB/Swiss-Prot
      Q86T96
      Related
      ENSP00000296615.6, ENST00000296615.10

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      64165351..64372869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417118.1 → XP_047273074.1  E3 ubiquitin-protein ligase RNF180 isoform X1

    2. XM_047417120.1 → XP_047273076.1  E3 ubiquitin-protein ligase RNF180 isoform X5

      UniProtKB/Swiss-Prot
      Q0JSU3, Q495A8, Q86T96, Q8NBD1

    3. XM_017009388.2 → XP_016864877.1  E3 ubiquitin-protein ligase RNF180 isoform X1

    4. XM_047417119.1 → XP_047273075.1  E3 ubiquitin-protein ligase RNF180 isoform X5

      UniProtKB/Swiss-Prot
      Q0JSU3, Q495A8, Q86T96, Q8NBD1

    5. XM_017009383.2 → XP_016864872.1  E3 ubiquitin-protein ligase RNF180 isoform X1

    6. XM_017009386.3 → XP_016864875.1  E3 ubiquitin-protein ligase RNF180 isoform X2

    7. XM_047417116.1 → XP_047273072.1  E3 ubiquitin-protein ligase RNF180 isoform X3

    8. XM_017009387.1 → XP_016864876.1  E3 ubiquitin-protein ligase RNF180 isoform X4

    9. XM_047417121.1 → XP_047273077.1  E3 ubiquitin-protein ligase RNF180 isoform X5

      UniProtKB/Swiss-Prot
      Q0JSU3, Q495A8, Q86T96, Q8NBD1

    10. XM_047417122.1 → XP_047273078.1  E3 ubiquitin-protein ligase RNF180 isoform X3

    11. XM_017009389.2 → XP_016864878.1  E3 ubiquitin-protein ligase RNF180 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      64985393..65192972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352453.1 → XP_054208428.1  E3 ubiquitin-protein ligase RNF180 isoform X5

      UniProtKB/Swiss-Prot
      Q0JSU3, Q495A8, Q86T96, Q8NBD1

    2. XM_054352450.1 → XP_054208425.1  E3 ubiquitin-protein ligase RNF180 isoform X1

    3. XM_054352451.1 → XP_054208426.1  E3 ubiquitin-protein ligase RNF180 isoform X1

    4. XM_054352454.1 → XP_054208429.1  E3 ubiquitin-protein ligase RNF180 isoform X5

      UniProtKB/Swiss-Prot
      Q0JSU3, Q495A8, Q86T96, Q8NBD1

    5. XM_054352446.1 → XP_054208421.1  E3 ubiquitin-protein ligase RNF180 isoform X1

    6. XM_054352447.1 → XP_054208422.1  E3 ubiquitin-protein ligase RNF180 isoform X2

    7. XM_054352448.1 → XP_054208423.1  E3 ubiquitin-protein ligase RNF180 isoform X3

    8. XM_054352449.1 → XP_054208424.1  E3 ubiquitin-protein ligase RNF180 isoform X4

    9. XM_054352455.1 → XP_054208430.1  E3 ubiquitin-protein ligase RNF180 isoform X5

      UniProtKB/Swiss-Prot
      Q0JSU3, Q495A8, Q86T96, Q8NBD1

    10. XM_054352456.1 → XP_054208431.1  E3 ubiquitin-protein ligase RNF180 isoform X3

    11. XM_054352452.1 → XP_054208427.1  E3 ubiquitin-protein ligase RNF180 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86T96.2 GenPept UniProtKB/Swiss-Prot:Q86T96

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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